Canonical Allele Identifier: CA378601593
Gene: ARMS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122454939T>G , CM000672.2:g.122454939T>G GRCh38
NC_000010.10:g.124214455T>G , CM000672.1:g.124214455T>G GRCh37
NC_000010.9:g.124204445T>G NCBI36
NG_011725.1:g.5277T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000528446.1:c.212T>G MANE Select ENSP00000436682.1:p.Ile71Ser
NM_001099667.1:c.212T>G NP_001093137.1:p.Ile71Ser
XR_946382.1:n.1827+3556A>C
XR_946383.1:n.1827+3556A>C
XR_946384.1:n.1576+3556A>C
XR_946385.1:n.1910A>C
NM_001099667.2:c.212T>G NP_001093137.1:p.Ile71Ser
XR_946382.2:n.1855+3556A>C
XR_946383.2:n.1855+3556A>C
XR_946384.2:n.1580+3556A>C
XR_946385.2:n.1938A>C
NM_001099667.3:c.212T>G MANE Select NP_001093137.1:p.Ile71Ser